Variant: rs1126422 

    present in Gene: AMT
    present in Chromosome: 3
    Position on Chromosome: 49421551
    Alleles of this Variant: G/A

rs1126422 in AMT gene and Nonketotic Hyperglycinemia PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 16051266 2005 Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 26371980 2016 A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 11286506 2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 9621520 1998 A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PMID 9600239 1998 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

PMID 8005589 1994 Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.